#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley, Science Communication Associate Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

New Resource from KIF1A.ORG

If your family has received a diagnosis of KIF1A Associated Neurological Disorder (KAND), you’ve probably never heard of it before. That’s okay. Your doctors probably haven’t either! But the KIF1A.ORG community is here to help. Introducing our newest Research Simplified resource thanks to KIF1A.ORG volunteer, Grace Endy: “What Is KAND?”

Recent KIF1A-Related Research

Patient-derived iPSC modeling of rare neurodevelopmental disorders:
Molecular pathophysiology and prospective therapies

In order to increase our understanding of diseases and disorders, scientists often conduct experiments in different biological systems when certain types of experimentation on human patients are unfeasible or unethical. Commonly, model system experiments have been conducted in whole organisms, like mice, fish and even worms! However, for many diseases including rare neurodevelopmental disorders like KAND, a newer type of model system is emerging: systems created from a patient’s own cells. These are referred to as “patient-derived induced pluripotent stem cells (iPSCs).”

What is an iPSC again? iPSCs are a type of cell in our body with “stem-like” properties, meaning they can be reprogrammed to turn into almost any type of cell. In the case of rare neurodevelopmental disorders, iPSC cells are often reprogrammed into neurons or other cell type that reside in our nervous system.

This review article comprehensively discusses the ways in which patient-derived iPSCs are being used to model many different rare neurodevelopmental disorders, helping to inform and drive therapeutic development. Limitations of this type of experimentation are also discussed, such as cost, time and difficulty developing a large cohort of samples for experimentation due to the innate low incidence of patients in rare disease communities. Furthermore, they highlight tools used to generate these functional model systems such as CRISPR/Cas9 technology, and 3D brain organoid models. A brain organoid, also known as a “mini-brain” is a network of neurons and brain tissue grown in a laboratory setting that help scientists learn about full grown human brains. If you want to learn more about this fascinating new tool, check out the video below!

Rare Disease News


From the title you’re probably thinking, “Is there really such a magical drug to rewind the clock?” If we’re talking about the brain and its functions, then there just might be one! The world of small molecule therapeutics is quickly expanding to help alleviate symptoms found in a range of diseases and recent discoveries at UCSF have potentially found a way to use this strategy to reverse age-related cognitive decline. The article describes a drug called the integrated stress response inhibitor (ISRIB) that was originally found in 2013 to help improve a number of symptoms, such as memory function after a traumatic brain injury, cognitive impairments in Down syndrome, and cognition in animals. 

Recently, researchers Peter Walter, Ph.D., and Karen Krukowski, Ph.D, have shown that ISRIB rapidly restores brain function in aged mice and revitalizes brain and immune cells to improve brain function. Cognitive loss due to age was previously thought to be a permanent degradation, but this data suggests that it may be caused by a reversible blockage trapped by cellular stress. These researchers suggest that ISRIB can reverse the block of cognitive resources in the brain by rebooting the cells’ machinery to produce protein and weed out misbehaving cells. Overall, research has shown that this one drug packs a mighty punch in helping improve cognition, boost neuron and immune cell function, and benefits other neurological diseases by enhancing neuronal performance with little to no observed side effects. Small molecule directed therapies is a very hot topic in the neurodegenerative diseases community and learning about the progression of this field is valuable and exciting! To read more about this, check out the article below. For even more information about the science behind these amazing discoveries, click on the publication link!

Accelerating Treatments for Rare Disease through Data Sharing

Want something new to listen to this weekend? Check out Nicole Boice, KIF1A.ORG Board Member and an epic leader in the rare disease community, on the latest episode of RAREcast!

“Patients’ data is critical to rare disease innovation, but it does little to help advance progress if it is not widely accessible to researchers. RARE-X is a nonprofit working to bust data silos through a federated data-sharing platform and empower rare disease patient communities to more easily gather, structure and securely share critical data through a common platform. We spoke to Nicole Boice, co-founder and executive director of RARE-X, about the problem RARE-X is seeking to address, the technology and expertise the organization has been able to bring together, and why data sharing is essential to accelerating the diagnosis or rare diseases and development of new treatments to treat them.”

RAREcast summary, episode 317


A common obstacle seen amongst the rare disease (RD) community is gaining access to sufficient patient data and resources, which ultimately leads to delays in diagnosis and treatment. On top of that, the lack of therapeutics for rare diseases adds to the difficulty of patient recovery. To combat these barriers, the idea of Open Science, defined as the practice of openly sharing scientific resources, is highly regarded in the RD community, as collaborative knowledge helps to progress research and medical management forward faster. This comprehensive review details the advantages of Open Science and discusses ways to advance this movement globally.

As mentioned in the article, the main benefit of centralizing patient data arises from Open Science, which first needs to be deemed FAIR (Findable, Accessible, Interoperable, and Reusable) in order to be in usage. The key players in this process are patients, families, and RD advocates, all of which continuously prove to be essential players in advancing RD care and research. However, open access alone is not enough to make data useful, as the data needs to be structured, curated, and documented. To address these concerns, the usage of common data elements (CDEs) and Human Phenotype Ontology (HPO) are implemented to universally describe collected data and depict a well-defined set of terms to inform phenotypic abnormalities, respectively. In addition, the usage of databases to distribute RD knowledge and RD registries to conduct natural history studies and analyze biomarkers are helpful in creating an environment for Open Science to thrive. Lastly, the paper suggests that employing new technology, such as facial imaging and telemedicine, can help decrease the time of diagnosis and improve patient health by giving them more access to services and communication. Overall, this review depicts large advancements already made in RD communities to overcome deficiencies in resources and Open Science has proven to be a major contributor to this success! Our KAND community is no stranger to promoting Open Science, as we welcome all forms of collaboration and shared knowledge so that patients and families can have accessible resources at their fingertips. To read more about the roadmap for Open Science in rare diseases, check out the article below!

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